Hemochromatosis

A 43-year-old man presents to a primary care physician for the first time complaining of worsening joint pain and decreased libido over the past two years. Basic laboratory workup reveals hyperglycemia. On physical exam, the patient is noted to have a bright tan despite his work as a radiologist.

Introduction

Disease caused by excess iron deposition in nearly all tissues

slow disease course with disease presenting in fifth decade (men)

appears 10-20 years post-menopause in women

see Treatment section

May be primary or secondary

primary

mutation in HFE gene

gene normally controls loading of iron onto transferrin

loss of HFE results in dysregulation leading to a maximual transfer of iron from gut mucosal cells into the plasma

may also have a mutation in

ferroportin

hemojuvulin

secondary (hemosiderosis)

accumulation of iron secondary to

frequent blood transfusions

seen in RBC disorders (e.g. sickle cell, thalassemia)

alcoholism

high iron content in alcohol

drinking water sourced from iron pipes

Iron is not directly toxic to tissues

iron generates free radicals that causes damage

AR inheritance on chromosome 6

associated with HLA-A3

men > women

northern Europeans

Presentation

Symptoms

cirrhosis

malabsorption

secondary to destruction of the exocrine pancreas

amenorrhea/↓ libido

secondary to hypogonadism

arthritis

chondrocalcinosis

Physical exam

diabetes mellitus

secondary to destruction of the endocrine pancreas

skin hyperpigmentation

"bronze diabetes"

Evaluation

Labs

↑ ferritin

↑ iron

↑ transferrin saturation

↓ TIBC

secondary to ↓ transferrin synthesis

↓ LH/FSH

Biopsy

micronodular cirrhosis

Treatment

Medical

repeated phlebotomy

↓ total iron stores

menses serves this function in women with HFE mutation

reason why disease appears post-menopause

deferoxamine

iron chelating agent

Prognosis, Prevention, and Complications

Complicated by

cardiomyopathy due to iron deposition in the heart

initially presents with restrictive symptoms

later progresses to dilated cardiomyopathy (most common presentation)

CHF

↑ risk of hepatocellular carcinoma

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(M1.GI.202)
A 63-year-old female enrolls in a research study evaluating the use of iron studies to screen for disease in a population of post-menopausal women. Per study protocol, past medical history and other identifying information is unknown. The patient's iron studies return as follows: